A Conversation with Veena Joy, U.S. Autoimmunity Lead for Medical and Scientific Affairs at Thermo Fisher Scientific

More than 15 million people in the United States have at least one of 105 autoimmune diseases, according to a recent study published in The Journal of Clinical Investigation. Women are twice as likely as men to be diagnosed. However, more than 76% of autoimmune patients receive at least one misdiagnosis. This is especially true for rheumatic disease patients with conditions such as rheumatoid arthritis (RA)—approximately 20% of patients originally diagnosed with RA are misdiagnosed, according to a separate study.

In this interview, Veena Joy, the U.S. autoimmunity lead for medical and scientific affairs at Thermo Fisher Scientific, explains why these delays are happening, where gender bias fits into the equation and shares why current research has her feeling hopeful.

This interview has been edited for length and clarity.

Veena Joy

MHE: What defines a disease as “rheumatic,” and how do rheumatic diseases differ from other autoimmune or inflammatory conditions?

Joy: Rheumatic disease is in a bucket that holds autoimmune and inflammatory conditions.

There's non-inflammatory, degenerative, and then there are inflammatory conditions. Under inflammatory, you have more of the autoimmune conditions like rheumatoid arthritis, lupus or systemic lupus and Sjogren syndrome, but then you also have non-autoimmune conditions like gout and psoriatic arthritis.

Rheumatic diseases more commonly affect the joints, but they can also affect muscles, bones and other organs.

MHE: One study shows up to 76% of autoimmune patients receive at least one misdiagnosis. Why is that number so high?

Joy: There are a lot of reasons. One of the core ones is common, overlapping symptoms with other conditions.

A lot of these patients will present with symptoms such as fatigue, joint pain, hair loss, fever or rash that can mimic many other diseases.

What compounds that is that the rheumatology workforce is continuously shrinking.

We have fewer and fewer rheumatologists but you have increased need for rheumatologists, and by default, many patients go to a primary care doctor first.

Unfortunately, within primary care, most of these physicians just don't have as much awareness or even education about autoimmune conditions.

Another piece to this is healthcare bias. Autoimmune conditions affect more women than men, so when women present with some of these symptoms, it can often be attributed to stress and hormonal changes.

There's a stat out there that says 66% of women will be misdiagnosed compared to men. It's stark, especially considering 80% of autoimmune conditions affect women.

MHE: What kinds of conditions are people commonly misdiagnosed with instead?

Joy: Fibromyalgia and Multiple Sclerosis are common misdiagnoses. Some patients will also be misdiagnosed with other autoimmune conditions. For example, if they have lupus, they're misdiagnosed with RA.

I have also seen a stat that said up to 54% of patients with undifferentiated arthritis will eventually go on to be diagnosed with rheumatoid arthritis.

Depression can also be diagnosed, as it is sometimes seen at the onset of some of these non-specific symptoms.

MHE: Why do rheumatic diseases affect women at significantly higher rates?

Joy: That's still very much a mystery, but it's exciting to see that more and more research is going towards understanding the female component.

What we know so far is that sex hormones are a contributing factor. But autoimmunity is not just genetic predisposition; it can also be triggered by environmental factors.

MHE: What are the most exciting areas of research about autoimmune rheumatic diseases right now?

Joy: New biomarkers are always exciting. Up to 20% of RA patients, probably even more, depending on what study you look at, are seronegative, meaning these rheumatoid arthritis patients are not going to test positive for the most relevant diagnostic markers. Primary care physicians and even rheumatologists, are often left going in circles with these patients, and that will delay treatment, so knowing whether there are markers that can fill that diagnostic void of seronegativity, markers that can demonstrate risk stratification early on, potentially even before symptoms arise, is important.

There is a lot of research going on around genetic mechanisms and mechanistic pathways, meaning what's triggering autoimmunity, because if we know what triggers it, are there certain drugs that can target those pathways and effectively stop them?

The space of autoimmune research has been advancing so rapidly because of the types of symptoms and what we're seeing, even post-COVID.

MHE: Do you think a cure or something close to it is possible within the next decade or two?

Joy: I'm hopeful. Autoimmunity is very complex—a bucket of 80 plus diseases, so it's hard to tell.

Because so much more emphasis is being put on studying and understanding some of the root causes and mechanisms of autoimmunity and because you're seeing such an exponential increase in this type of research and just questioning, I think we have a good chance of moving in the right direction.

We're sitting in a very good storm—I don't want to say the perfect storm just yet, but we've got AI and we've got brilliant people working on this.

What will be critical is collaboration across the board, globally. And if we can make all that happen and keep moving in the right direction, I think we are well on our way to, at least for one or two of the diseases, finding something that will really either delay progression, slow down progression or potentially even be a cure.